Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152304391_152304508del | CA2647993492 | FLG | c.10378_10495del (p.Ser3460ProfsTer?) c.9109-675_9109-558del (n.9109-675_9109-558del) | gnomAD v4 |
1 | g.152304488del | CA2574057964 | FLG | c.10398del (p.His3466GlnfsTer?) c.9109-655del (n.9109-655del) | |
1 | g.152304488G>A | CA420926582 | FLG | c.10398C>T (p.His3466=) c.9109-655C>T (n.9109-655C>T) | |
1 | g.152304488G>C | CA342070191 | FLG | c.10398C>G (p.His3466Gln) c.9109-655C>G (n.9109-655C>G) | |
1 | g.152304488G>T | CA342070193 | FLG | c.10398C>A (p.His3466Gln) c.9109-655C>A (n.9109-655C>A) | |
1 | g.152304489T>A | CA342070196 | FLG | c.10397A>T (p.His3466Leu) c.9109-656A>T (n.9109-656A>T) | gnomAD v4 |
1 | g.152304489T>C | CA342070197 | FLG | c.10397A>G (p.His3466Arg) c.9109-656A>G (n.9109-656A>G) | |
1 | g.152304489T>G | CA342070198 | FLG | c.10397A>C (p.His3466Pro) c.9109-656A>C (n.9109-656A>C) | |
1 | g.152304490G>A | CA342070199 | FLG | c.10396C>T (p.His3466Tyr) c.9109-657C>T (n.9109-657C>T) | |
1 | g.152304490G>C | CA342070200 | FLG | c.10396C>G (p.His3466Asp) c.9109-657C>G (n.9109-657C>G) | |
1 | g.152304490G= | CA2479947471 | FLG | c.10396C= (p.His3466=) c.9109-657C= (n.9109-657C=) | |
1 | g.152304490G>T | CA1103367 | FLG | c.10396C>A (p.His3466Asn) c.9109-657C>A (n.9109-657C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304491G>A | CA420926588 | FLG | c.10395C>T (p.Ser3465=) c.9109-658C>T (n.9109-658C>T) | gnomAD v4 |
1 | g.152304491G>C | CA342070213 | FLG | c.10395C>G (p.Ser3465Arg) c.9109-658C>G (n.9109-658C>G) | |
1 | g.152304491G>T | CA342070204 | FLG | c.10395C>A (p.Ser3465Arg) c.9109-658C>A (n.9109-658C>A) | COSMIC |
1 | g.152304492C>A | CA342070217 | FLG | c.10394G>T (p.Ser3465Ile) c.9109-659G>T (n.9109-659G>T) | |
1 | g.152304492C= | CA1145775080 | FLG | c.10394G= (p.Ser3465=) c.9109-659G= (n.9109-659G=) | |
1 | g.152304492C>G | CA342070219 | FLG | c.10394G>C (p.Ser3465Thr) c.9109-659G>C (n.9109-659G>C) | gnomAD v4 |
1 | g.152304492C>T | CA1103368 | FLG | c.10394G>A (p.Ser3465Asn) c.9109-659G>A (n.9109-659G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304493T>A | CA342070225 | FLG | c.10393A>T (p.Ser3465Cys) c.9109-660A>T (n.9109-660A>T) | gnomAD v4 |
1 | g.152304493T>C | CA342070228 | FLG | c.10393A>G (p.Ser3465Gly) c.9109-660A>G (n.9109-660A>G) | |
1 | g.152304493T>G | CA342070231 | FLG | c.10393A>C (p.Ser3465Arg) c.9109-660A>C (n.9109-660A>C) | |
1 | g.152304494G>A | CA420926592 | FLG | c.10392C>T (p.His3464=) c.9109-661C>T (n.9109-661C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304494G>C | CA1103369 | FLG | c.10392C>G (p.His3464Gln) c.9109-661C>G (n.9109-661C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304494G= | CA2479947472 | FLG | c.10392C= (p.His3464=) c.9109-661C= (n.9109-661C=) | |
1 | g.152304494G>T | CA342070253 | FLG | c.10392C>A (p.His3464Gln) c.9109-661C>A (n.9109-661C>A) | gnomAD v4 |
1 | g.152304495T>A | CA342070256 | FLG | c.10391A>T (p.His3464Leu) c.9109-662A>T (n.9109-662A>T) | |
1 | g.152304495T>C | CA342070257 | FLG | c.10391A>G (p.His3464Arg) c.9109-662A>G (n.9109-662A>G) | |
1 | g.152304495T>G | CA342070258 | FLG | c.10391A>C (p.His3464Pro) c.9109-662A>C (n.9109-662A>C) | dbSNP |
1 | g.152304495T= | CA2479947473 | FLG | c.10391A= (p.His3464=) c.9109-662A= (n.9109-662A=) | |
1 | g.152304496G>A | CA342070259 | FLG | c.10390C>T (p.His3464Tyr) c.9109-663C>T (n.9109-663C>T) | |
1 | g.152304496G>C | CA342070262 | FLG | c.10390C>G (p.His3464Asp) c.9109-663C>G (n.9109-663C>G) | gnomAD v4 |
1 | g.152304496G>T | CA342070265 | FLG | c.10390C>A (p.His3464Asn) c.9109-663C>A (n.9109-663C>A) | |
1 | g.152304497A= | CA2479947474 | FLG | c.10389T= (p.His3463=) c.9109-664T= (n.9109-664T=) | |
1 | g.152304497A>C | CA342070267 | FLG | c.10389T>G (p.His3463Gln) c.9109-664T>G (n.9109-664T>G) | |
1 | g.152304497A>G | CA420926595 | FLG | c.10389T>C (p.His3463=) c.9109-664T>C (n.9109-664T>C) | |
1 | g.152304497A>T | CA342070269 | FLG | c.10389T>A (p.His3463Gln) c.9109-664T>A (n.9109-664T>A) | dbSNP gnomAD v4 |
1 | g.152304498T>A | CA342070271 | FLG | c.10388A>T (p.His3463Leu) c.9109-665A>T (n.9109-665A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304498T>C | CA342070273 | FLG | c.10388A>G (p.His3463Arg) c.9109-665A>G (n.9109-665A>G) | |
1 | g.152304498T>G | CA342070275 | FLG | c.10388A>C (p.His3463Pro) c.9109-665A>C (n.9109-665A>C) | |
1 | g.152304498T= | CA2479947475 | FLG | c.10388A= (p.His3463=) c.9109-665A= (n.9109-665A=) | |
1 | g.152304499G>A | CA342070279 | FLG | c.10387C>T (p.His3463Tyr) c.9109-666C>T (n.9109-666C>T) | |
1 | g.152304499G>C | CA342070283 | FLG | c.10387C>G (p.His3463Asp) c.9109-666C>G (n.9109-666C>G) | |
1 | g.152304499G>T | CA342070289 | FLG | c.10387C>A (p.His3463Asn) c.9109-666C>A (n.9109-666C>A) | |
1 | g.152304500G>A | CA1103370 | FLG | c.10386C>T (p.Ser3462=) c.9109-667C>T (n.9109-667C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304500G>C | CA420926604 | FLG | c.10386C>G (p.Ser3462=) c.9109-667C>G (n.9109-667C>G) | |
1 | g.152304500G= | CA1141734246 | FLG | c.10386C= (p.Ser3462=) c.9109-667C= (n.9109-667C=) | |
1 | g.152304500G>T | CA420926605 | FLG | c.10386C>A (p.Ser3462=) c.9109-667C>A (n.9109-667C>A) | |
1 | g.152304500_152304501insTCCGT | CA2647993501 | FLG | c.10385_10386insACGGA (p.His3463ArgfsTer?) c.9109-668_9109-667insACGGA (n.9109-668_9109-667insACGGA) | gnomAD v4 |
1 | g.152304501G>A | CA342070310 | FLG | c.10385C>T (p.Ser3462Phe) c.9109-668C>T (n.9109-668C>T) | |
1 | g.152304501G>C | CA342070314 | FLG | c.10385C>G (p.Ser3462Cys) c.9109-668C>G (n.9109-668C>G) | |
1 | g.152304501G>T | CA342070317 | FLG | c.10385C>A (p.Ser3462Tyr) c.9109-668C>A (n.9109-668C>A) | |
1 | g.152304502A= | CA2479947476 | FLG | c.10384T= (p.Ser3462=) c.9109-669T= (n.9109-669T=) | |
1 | g.152304502A>C | CA342070320 | FLG | c.10384T>G (p.Ser3462Ala) c.9109-669T>G (n.9109-669T>G) | gnomAD v4 |
1 | g.152304502A>G | CA1103371 | FLG | c.10384T>C (p.Ser3462Pro) c.9109-669T>C (n.9109-669T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304502A>T | CA342070325 | FLG | c.10384T>A (p.Ser3462Thr) c.9109-669T>A (n.9109-669T>A) | |
1 | g.152304503C>A | CA1103373 | FLG | c.10383G>T (p.Gly3461=) c.9109-670G>T (n.9109-670G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304503C= | CA1142055505 | FLG | c.10383G= (p.Gly3461=) c.9109-670G= (n.9109-670G=) | |
1 | g.152304503C>G | CA420926612 | FLG | c.10383G>C (p.Gly3461=) c.9109-670G>C (n.9109-670G>C) | |
1 | g.152304503C>T | CA1103372 | FLG | c.10383G>A (p.Gly3461=) c.9109-670G>A (n.9109-670G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304504C>A | CA342070328 | FLG | c.10382G>T (p.Gly3461Val) c.9109-671G>T (n.9109-671G>T) | |
1 | g.152304504C= | CA2479947477 | FLG | c.10382G= (p.Gly3461=) c.9109-671G= (n.9109-671G=) | |
1 | g.152304504C>G | CA342070329 | FLG | c.10382G>C (p.Gly3461Ala) c.9109-671G>C (n.9109-671G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304504C>T | CA342070332 | FLG | c.10382G>A (p.Gly3461Glu) c.9109-671G>A (n.9109-671G>A) | gnomAD v4 |
1 | g.152304504_152304505insAATGC | CA2647993502 | FLG | c.10382_10383insCATTG (p.Ser3462IlefsTer?) c.9109-671_9109-670insCATTG (n.9109-671_9109-670insCATTG) | gnomAD v4 |
1 | g.152304505C>A | CA342070338 | FLG | c.10381G>T (p.Gly3461Trp) c.9109-672G>T (n.9109-672G>T) | |
1 | g.152304505C>G | CA342070341 | FLG | c.10381G>C (p.Gly3461Arg) c.9109-672G>C (n.9109-672G>C) | |
1 | g.152304505C>T | CA342070344 | FLG | c.10381G>A (p.Gly3461Arg) c.9109-672G>A (n.9109-672G>A) | gnomAD v4 |
1 | g.152304506T>A | CA420926617 | FLG | c.10380A>T (p.Ser3460=) c.9109-673A>T (n.9109-673A>T) | gnomAD v4 |
1 | g.152304506T>C | CA1103374 | FLG | c.10380A>G (p.Ser3460=) c.9109-673A>G (n.9109-673A>G) | dbSNP ExAC gnomAD v2 |
1 | g.152304506T>G | CA1103375 | FLG | c.10380A>C (p.Ser3460=) c.9109-673A>C (n.9109-673A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304506T= | CA2479947478 | FLG | c.10380A= (p.Ser3460=) c.9109-673A= (n.9109-673A=) | |
1 | g.152304507G>A | CA342070354 | FLG | c.10379C>T (p.Ser3460Leu) c.9109-674C>T (n.9109-674C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304507G>C | CA342070358 | FLG | c.10379C>G (p.Ser3460Ter) c.9109-674C>G (n.9109-674C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304507G= | CA2479947479 | FLG | c.10379C= (p.Ser3460=) c.9109-674C= (n.9109-674C=) | |
1 | g.152304507G>T | CA342070362 | FLG | c.10379C>A (p.Ser3460Ter) c.9109-674C>A (n.9109-674C>A) | |
1 | g.152304508A>C | CA342070370 | FLG | c.10378T>G (p.Ser3460Ala) c.9109-675T>G (n.9109-675T>G) | gnomAD v4 |
1 | g.152304508A>G | CA342070384 | FLG | c.10378T>C (p.Ser3460Pro) c.9109-675T>C (n.9109-675T>C) | |
1 | g.152304508A>T | CA342070387 | FLG | c.10378T>A (p.Ser3460Thr) c.9109-675T>A (n.9109-675T>A) | |
1 | g.152304509G>A | CA420926619 | FLG | c.10377C>T (p.His3459=) c.9109-676C>T (n.9109-676C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304509G>C | CA342070394 | FLG | c.10377C>G (p.His3459Gln) c.9109-676C>G (n.9109-676C>G) | |
1 | g.152304509G= | CA2479947480 | FLG | c.10377C= (p.His3459=) c.9109-676C= (n.9109-676C=) | |
1 | g.152304509G>T | CA342070390 | FLG | c.10377C>A (p.His3459Gln) c.9109-676C>A (n.9109-676C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304510T>A | CA342070401 | FLG | c.10376A>T (p.His3459Leu) c.9109-677A>T (n.9109-677A>T) | |
1 | g.152304510T>C | CA342070405 | FLG | c.10376A>G (p.His3459Arg) c.9109-677A>G (n.9109-677A>G) | |
1 | g.152304510T>G | CA342070403 | FLG | c.10376A>C (p.His3459Pro) c.9109-677A>C (n.9109-677A>C) | |
1 | g.152304511G>A | CA342070410 | FLG | c.10375C>T (p.His3459Tyr) c.9109-678C>T (n.9109-678C>T) | gnomAD v4 |
1 | g.152304511G>C | CA342070420 | FLG | c.10375C>G (p.His3459Asp) c.9109-678C>G (n.9109-678C>G) | |
1 | g.152304511G>T | CA342070414 | FLG | c.10375C>A (p.His3459Asn) c.9109-678C>A (n.9109-678C>A) | |
1 | g.152304512T>A | CA420926625 | FLG | c.10374A>T (p.Gly3458=) c.9109-679A>T (n.9109-679A>T) | |
1 | g.152304512T>C | CA420926628 | FLG | c.10374A>G (p.Gly3458=) c.9109-679A>G (n.9109-679A>G) | dbSNP gnomAD v4 |
1 | g.152304512T>G | CA420926629 | FLG | c.10374A>C (p.Gly3458=) c.9109-679A>C (n.9109-679A>C) | COSMIC |
1 | g.152304512T= | CA2479947481 | FLG | c.10374A= (p.Gly3458=) c.9109-679A= (n.9109-679A=) | |
1 | g.152304513C>A | CA342070430 | FLG | c.10373G>T (p.Gly3458Val) c.9109-680G>T (n.9109-680G>T) | |
1 | g.152304513C>G | CA342070432 | FLG | c.10373G>C (p.Gly3458Ala) c.9109-680G>C (n.9109-680G>C) | |
1 | g.152304513C>T | CA342070436 | FLG | c.10373G>A (p.Gly3458Glu) c.9109-680G>A (n.9109-680G>A) | |
1 | g.152304514C>A | CA342070443 | FLG | c.10372G>T (p.Gly3458Ter) c.9109-681G>T (n.9109-681G>T) | |
1 | g.152304514C= | CA2479947482 | FLG | c.10372G= (p.Gly3458=) c.9109-681G= (n.9109-681G=) | |
1 | g.152304514C>G | CA342070447 | FLG | c.10372G>C (p.Gly3458Arg) c.9109-681G>C (n.9109-681G>C) | |
1 | g.152304514C>T | CA342070449 | FLG | c.10372G>A (p.Gly3458Arg) c.9109-681G>A (n.9109-681G>A) | dbSNP gnomAD v4 |
1 | g.152304515A= | CA2479947483 | FLG | c.10371T= (p.Ser3457=) c.9109-682T= (n.9109-682T=) | |
1 | g.152304515A>C | CA420926790 | FLG | c.10371T>G (p.Ser3457=) c.9109-682T>G (n.9109-682T>G) | |
1 | g.152304515A>G | CA1103376 | FLG | c.10371T>C (p.Ser3457=) c.9109-682T>C (n.9109-682T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304515A>T | CA420926792 | FLG | c.10371T>A (p.Ser3457=) c.9109-682T>A (n.9109-682T>A) | |
1 | g.152304516G>A | CA342070453 | FLG | c.10370C>T (p.Ser3457Phe) c.9109-683C>T (n.9109-683C>T) | |
1 | g.152304516G>C | CA342070454 | FLG | c.10370C>G (p.Ser3457Cys) c.9109-683C>G (n.9109-683C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304516G= | CA2479947484 | FLG | c.10370C= (p.Ser3457=) c.9109-683C= (n.9109-683C=) | |
1 | g.152304516G>T | CA342070455 | FLG | c.10370C>A (p.Ser3457Tyr) c.9109-683C>A (n.9109-683C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304517A= | CA2479947485 | FLG | c.10369T= (p.Ser3457=) c.9109-684T= (n.9109-684T=) | |
1 | g.152304517A>C | CA1103377 | FLG | c.10369T>G (p.Ser3457Ala) c.9109-684T>G (n.9109-684T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304517A>G | CA342070469 | FLG | c.10369T>C (p.Ser3457Pro) c.9109-684T>C (n.9109-684T>C) | |
1 | g.152304517A>T | CA342070473 | FLG | c.10369T>A (p.Ser3457Thr) c.9109-684T>A (n.9109-684T>A) | |
1 | g.152304518C>A | CA342070483 | FLG | c.10368G>T (p.Arg3456Ser) c.9109-685G>T (n.9109-685G>T) | dbSNP |
1 | g.152304518C= | CA1145966677 | FLG | c.10368G= (p.Arg3456=) c.9109-685G= (n.9109-685G=) | |
1 | g.152304518C>G | CA1103379 | FLG | c.10368G>C (p.Arg3456Ser) c.9109-685G>C (n.9109-685G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304518C>T | CA1103378 | FLG | c.10368G>A (p.Arg3456=) c.9109-685G>A (n.9109-685G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304519del | CA2647993503 | FLG | c.10368del (p.Arg3456SerfsTer?) c.9109-685del (n.9109-685del) | gnomAD v4 |
1 | g.152304519C>A | CA342070485 | FLG | c.10367G>T (p.Arg3456Met) c.9109-686G>T (n.9109-686G>T) | |
1 | g.152304519C= | CA2479947486 | FLG | c.10367G= (p.Arg3456=) c.9109-686G= (n.9109-686G=) | |
1 | g.152304519C>G | CA342070487 | FLG | c.10367G>C (p.Arg3456Thr) c.9109-686G>C (n.9109-686G>C) | dbSNP |
1 | g.152304519C>T | CA342070490 | FLG | c.10367G>A (p.Arg3456Lys) c.9109-686G>A (n.9109-686G>A) | dbSNP gnomAD v4 |
1 | g.152304520T>A | CA342070498 | FLG | c.10366A>T (p.Arg3456Trp) c.9109-687A>T (n.9109-687A>T) | |
1 | g.152304520T>C | CA342070499 | FLG | c.10366A>G (p.Arg3456Gly) c.9109-687A>G (n.9109-687A>G) | gnomAD v4 |
1 | g.152304520T>G | CA420926799 | FLG | c.10366A>C (p.Arg3456=) c.9109-687A>C (n.9109-687A>C) | |
1 | g.152304521A= | CA2479947487 | FLG | c.10365T= (p.Asp3455=) c.9109-688T= (n.9109-688T=) | |
1 | g.152304521A>C | CA1103380 | FLG | c.10365T>G (p.Asp3455Glu) c.9109-688T>G (n.9109-688T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304521A>G | CA1103381 | FLG | c.10365T>C (p.Asp3455=) c.9109-688T>C (n.9109-688T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304521A>T | CA342070500 | FLG | c.10365T>A (p.Asp3455Glu) c.9109-688T>A (n.9109-688T>A) | |
1 | g.152304522T>A | CA342070505 | FLG | c.10364A>T (p.Asp3455Val) c.9109-689A>T (n.9109-689A>T) | |
1 | g.152304522T>C | CA342070507 | FLG | c.10364A>G (p.Asp3455Gly) c.9109-689A>G (n.9109-689A>G) | gnomAD v4 |
1 | g.152304522T>G | CA342070509 | FLG | c.10364A>C (p.Asp3455Ala) c.9109-689A>C (n.9109-689A>C) | |
1 | g.152304523C>A | CA342070510 | FLG | c.10363G>T (p.Asp3455Tyr) c.9109-690G>T (n.9109-690G>T) | |
1 | g.152304523C= | CA2479947488 | FLG | c.10363G= (p.Asp3455=) c.9109-690G= (n.9109-690G=) | |
1 | g.152304523C>G | CA342070511 | FLG | c.10363G>C (p.Asp3455His) c.9109-690G>C (n.9109-690G>C) | gnomAD v4 |
1 | g.152304523C>T | CA1103382 | FLG | c.10363G>A (p.Asp3455Asn) c.9109-690G>A (n.9109-690G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304524T>A | CA420926806 | FLG | c.10362A>T (p.Val3454=) c.9109-691A>T (n.9109-691A>T) | gnomAD v4 |
1 | g.152304524T>C | CA420926811 | FLG | c.10362A>G (p.Val3454=) c.9109-691A>G (n.9109-691A>G) | |
1 | g.152304524T>G | CA420926809 | FLG | c.10362A>C (p.Val3454=) c.9109-691A>C (n.9109-691A>C) | |
1 | g.152304525A= | CA1149050004 | FLG | c.10361T= (p.Val3454=) c.9109-692T= (n.9109-692T=) | |
1 | g.152304525A>C | CA1103384 | FLG | c.10361T>G (p.Val3454Gly) c.9109-692T>G (n.9109-692T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304525A>G | CA1103383 | FLG | c.10361T>C (p.Val3454Ala) c.9109-692T>C (n.9109-692T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304525A>T | CA342070518 | FLG | c.10361T>A (p.Val3454Glu) c.9109-692T>A (n.9109-692T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304526C>A | CA342070525 | FLG | c.10360G>T (p.Val3454Leu) c.9109-693G>T (n.9109-693G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304526C= | CA2479947489 | FLG | c.10360G= (p.Val3454=) c.9109-693G= (n.9109-693G=) | |
1 | g.152304526C>G | CA342070528 | FLG | c.10360G>C (p.Val3454Leu) c.9109-693G>C (n.9109-693G>C) | |
1 | g.152304526C>T | CA342070547 | FLG | c.10360G>A (p.Val3454Ile) c.9109-693G>A (n.9109-693G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304527C>A | CA1103387 | FLG | c.10359G>T (p.Ser3453=) c.9109-694G>T (n.9109-694G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304527C= | CA1141144266 | FLG | c.10359G= (p.Ser3453=) c.9109-694G= (n.9109-694G=) | |
1 | g.152304527C>G | CA1103386 | FLG | c.10359G>C (p.Ser3453=) c.9109-694G>C (n.9109-694G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.152304527C>T | CA1103385 | FLG | c.10359G>A (p.Ser3453=) c.9109-694G>A (n.9109-694G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304528G>A | CA1103388 | FLG | c.10358C>T (p.Ser3453Leu) c.9109-695C>T (n.9109-695C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304528G>C | CA342070561 | FLG | c.10358C>G (p.Ser3453Trp) c.9109-695C>G (n.9109-695C>G) | gnomAD v4 |
1 | g.152304528G= | CA2479947490 | FLG | c.10358C= (p.Ser3453=) c.9109-695C= (n.9109-695C=) | |
1 | g.152304528G>T | CA342070562 | FLG | c.10358C>A (p.Ser3453Ter) c.9109-695C>A (n.9109-695C>A) | |
1 | g.152304529A= | CA2479947491 | FLG | c.10357T= (p.Ser3453=) c.9109-696T= (n.9109-696T=) | |
1 | g.152304529A>C | CA342070569 | FLG | c.10357T>G (p.Ser3453Ala) c.9109-696T>G (n.9109-696T>G) | |
1 | g.152304529A>G | CA342070571 | FLG | c.10357T>C (p.Ser3453Pro) c.9109-696T>C (n.9109-696T>C) | gnomAD v4 |
1 | g.152304529A>T | CA1103389 | FLG | c.10357T>A (p.Ser3453Thr) c.9109-696T>A (n.9109-696T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304530T>A | CA1103391 | FLG | c.10356A>T (p.Gln3452His) c.9109-697A>T (n.9109-697A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304530T>C | CA420926821 | FLG | c.10356A>G (p.Gln3452=) c.9109-697A>G (n.9109-697A>G) | |
1 | g.152304530T>G | CA342070587 | FLG | c.10356A>C (p.Gln3452His) c.9109-697A>C (n.9109-697A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304530T= | CA2479947492 | FLG | c.10356A= (p.Gln3452=) c.9109-697A= (n.9109-697A=) | |
1 | g.152304531T>A | CA342070591 | FLG | c.10355A>T (p.Gln3452Leu) c.9109-698A>T (n.9109-698A>T) | |
1 | g.152304531T>C | CA342070599 | FLG | c.10355A>G (p.Gln3452Arg) c.9109-698A>G (n.9109-698A>G) | |
1 | g.152304531T>G | CA342070595 | FLG | c.10355A>C (p.Gln3452Pro) c.9109-698A>C (n.9109-698A>C) | |
1 | g.152304538_152304642del | CA1103390 | FLG | c.10251_10355del (p.Ala3418_Gln3452del) c.9109-802_9109-698del (n.9109-802_9109-698del) | ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304532G>A | CA342070602 | FLG | c.10354C>T (p.Gln3452Ter) c.9109-699C>T (n.9109-699C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304532G>C | CA342070607 | FLG | c.10354C>G (p.Gln3452Glu) c.9109-699C>G (n.9109-699C>G) | |
1 | g.152304532G= | CA2479947493 | FLG | c.10354C= (p.Gln3452=) c.9109-699C= (n.9109-699C=) | |
1 | g.152304532G>T | CA342070611 | FLG | c.10354C>A (p.Gln3452Lys) c.9109-699C>A (n.9109-699C>A) | gnomAD v4 |
1 | g.152304533C>A | CA1103392 | FLG | c.10353G>T (p.Glu3451Asp) c.9109-700G>T (n.9109-700G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304533C= | CA2479947494 | FLG | c.10353G= (p.Glu3451=) c.9109-700G= (n.9109-700G=) | |
1 | g.152304533C>G | CA342070617 | FLG | c.10353G>C (p.Glu3451Asp) c.9109-700G>C (n.9109-700G>C) | |
1 | g.152304533C>T | CA30600996 | FLG | c.10353G>A (p.Glu3451=) c.9109-700G>A (n.9109-700G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304534T>A | CA342070620 | FLG | c.10352A>T (p.Glu3451Val) c.9109-701A>T (n.9109-701A>T) | |
1 | g.152304534T>C | CA342070629 | FLG | c.10352A>G (p.Glu3451Gly) c.9109-701A>G (n.9109-701A>G) | |
1 | g.152304534T>G | CA342070632 | FLG | c.10352A>C (p.Glu3451Ala) c.9109-701A>C (n.9109-701A>C) | |
1 | g.152304535C>A | CA1103394 | FLG | c.10351G>T (p.Glu3451Ter) c.9109-702G>T (n.9109-702G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304535C= | CA1143749874 | FLG | c.10351G= (p.Glu3451=) c.9109-702G= (n.9109-702G=) | |
1 | g.152304535C>G | CA342070647 | FLG | c.10351G>C (p.Glu3451Gln) c.9109-702G>C (n.9109-702G>C) | |
1 | g.152304535C>T | CA1103393 | FLG | c.10351G>A (p.Glu3451Lys) c.9109-702G>A (n.9109-702G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304535_152304541dup | CA2647993504 | FLG | c.10345_10351dup (p.Glu3451AlafsTer8) c.9109-708_9109-702dup (n.9109-708_9109-702dup) | gnomAD v4 |
1 | g.152304536G>A | CA1103395 | FLG | c.10350C>T (p.Tyr3450=) c.9109-703C>T (n.9109-703C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304536G>C | CA1103396 | FLG | c.10350C>G (p.Tyr3450Ter) c.9109-703C>G (n.9109-703C>G) | dbSNP ExAC gnomAD v4 |
1 | g.152304536G= | CA2479947495 | FLG | c.10350C= (p.Tyr3450=) c.9109-703C= (n.9109-703C=) | |
1 | g.152304536G>T | CA342070667 | FLG | c.10350C>A (p.Tyr3450Ter) c.9109-703C>A (n.9109-703C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304537T>A | CA342070672 | FLG | c.10349A>T (p.Tyr3450Phe) c.9109-704A>T (n.9109-704A>T) | |
1 | g.152304537T>C | CA1103397 | FLG | c.10349A>G (p.Tyr3450Cys) c.9109-704A>G (n.9109-704A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304537T>G | CA342070675 | FLG | c.10349A>C (p.Tyr3450Ser) c.9109-704A>C (n.9109-704A>C) | |
1 | g.152304537T= | CA2479947496 | FLG | c.10349A= (p.Tyr3450=) c.9109-704A= (n.9109-704A=) | |
1 | g.152304538A= | CA1143472838 | FLG | c.10348T= (p.Tyr3450=) c.9109-705T= (n.9109-705T=) | |
1 | g.152304538A>C | CA342070697 | FLG | c.10348T>G (p.Tyr3450Asp) c.9109-705T>G (n.9109-705T>G) | |
1 | g.152304538A>G | CA1103398 | FLG | c.10348T>C (p.Tyr3450His) c.9109-705T>C (n.9109-705T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304538A>T | CA342070710 | FLG | c.10348T>A (p.Tyr3450Asn) c.9109-705T>A (n.9109-705T>A) | |
1 | g.152304539G>A | CA30601005 | FLG | c.10347C>T (p.His3449=) c.9109-706C>T (n.9109-706C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304539G>C | CA1103399 | FLG | c.10347C>G (p.His3449Gln) c.9109-706C>G (n.9109-706C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304539G= | CA2479947497 | FLG | c.10347C= (p.His3449=) c.9109-706C= (n.9109-706C=) | |
1 | g.152304539G>T | CA342070717 | FLG | c.10347C>A (p.His3449Gln) c.9109-706C>A (n.9109-706C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304540T>A | CA342070722 | FLG | c.10346A>T (p.His3449Leu) c.9109-707A>T (n.9109-707A>T) | |
1 | g.152304540T>C | CA30601007 | FLG | c.10346A>G (p.His3449Arg) c.9109-707A>G (n.9109-707A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304540T>G | CA342070728 | FLG | c.10346A>C (p.His3449Pro) c.9109-707A>C (n.9109-707A>C) | |
1 | g.152304540T= | CA1145117378 | FLG | c.10346A= (p.His3449=) c.9109-707A= (n.9109-707A=) | |
1 | g.152304541G>A | CA1103400 | FLG | c.10345C>T (p.His3449Tyr) c.9109-708C>T (n.9109-708C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304541G>C | CA342070742 | FLG | c.10345C>G (p.His3449Asp) c.9109-708C>G (n.9109-708C>G) | |
1 | g.152304541G= | CA2479947498 | FLG | c.10345C= (p.His3449=) c.9109-708C= (n.9109-708C=) | |
1 | g.152304541G>T | CA342070743 | FLG | c.10345C>A (p.His3449Asn) c.9109-708C>A (n.9109-708C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304542G>A | CA1103401 | FLG | c.10344C>T (p.Ser3448=) c.9109-709C>T (n.9109-709C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304542G>C | CA420926850 | FLG | c.10344C>G (p.Ser3448=) c.9109-709C>G (n.9109-709C>G) | |
1 | g.152304542G= | CA2479947499 | FLG | c.10344C= (p.Ser3448=) c.9109-709C= (n.9109-709C=) | |
1 | g.152304542G>T | CA420926848 | FLG | c.10344C>A (p.Ser3448=) c.9109-709C>A (n.9109-709C>A) | |
1 | g.152304543G>A | CA342070751 | FLG | c.10343C>T (p.Ser3448Phe) c.9109-710C>T (n.9109-710C>T) | |
1 | g.152304543G>C | CA342070745 | FLG | c.10343C>G (p.Ser3448Cys) c.9109-710C>G (n.9109-710C>G) | |
1 | g.152304543G= | CA2479947500 | FLG | c.10343C= (p.Ser3448=) c.9109-710C= (n.9109-710C=) | |
1 | g.152304543G>T | CA1103402 | FLG | c.10343C>A (p.Ser3448Tyr) c.9109-710C>A (n.9109-710C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304545_152304568del | CA2604727343 | FLG | c.10320_10343del (p.Ser3441_Ser3448del) c.9109-733_9109-710del (n.9109-733_9109-710del) | gnomAD v3 gnomAD v4 |
1 | g.152304544A>C | CA342070753 | FLG | c.10342T>G (p.Ser3448Ala) c.9109-711T>G (n.9109-711T>G) | |
1 | g.152304544A>G | CA342070755 | FLG | c.10342T>C (p.Ser3448Pro) c.9109-711T>C (n.9109-711T>C) | |
1 | g.152304544A>T | CA342070764 | FLG | c.10342T>A (p.Ser3448Thr) c.9109-711T>A (n.9109-711T>A) | gnomAD v4 |
1 | g.152304545T>A | CA1103404 | FLG | c.10341A>T (p.Gly3447=) c.9109-712A>T (n.9109-712A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304545T>C | CA1103403 | FLG | c.10341A>G (p.Gly3447=) c.9109-712A>G (n.9109-712A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304545T>G | CA420926856 | FLG | c.10341A>C (p.Gly3447=) c.9109-712A>C (n.9109-712A>C) | |
1 | g.152304545T= | CA1143530501 | FLG | c.10341A= (p.Gly3447=) c.9109-712A= (n.9109-712A=) | |
1 | g.152304545_152304548delinsTCCC | CA2479947501 | FLG | c.10338_10341delinsGGGA (p.Gln3446=) c.9109-715_9109-712delinsGGGA (n.9109-715_9109-712delinsGGGA) | |
1 | g.152304546C>A | CA342070776 | FLG | c.10340G>T (p.Gly3447Val) c.9109-713G>T (n.9109-713G>T) | |
1 | g.152304546C= | CA1141600138 | FLG | c.10340G= (p.Gly3447=) c.9109-713G= (n.9109-713G=) | |
1 | g.152304546C>G | CA342070781 | FLG | c.10340G>C (p.Gly3447Ala) c.9109-713G>C (n.9109-713G>C) | |
1 | g.152304546C>T | CA1103405 | FLG | c.10340G>A (p.Gly3447Glu) c.9109-713G>A (n.9109-713G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304546_152304548del | CA2479947502 | FLG | c.10338_10340del (p.Gly3447del) c.9109-715_9109-713del (n.9109-715_9109-713del) | dbSNP |
1 | g.152304547C>A | CA342070789 | FLG | c.10339G>T (p.Gly3447Ter) c.9109-714G>T (n.9109-714G>T) | gnomAD v4 |
1 | g.152304547C= | CA1143533505 | FLG | c.10339G= (p.Gly3447=) c.9109-714G= (n.9109-714G=) | |
1 | g.152304547C>G | CA342070796 | FLG | c.10339G>C (p.Gly3447Arg) c.9109-714G>C (n.9109-714G>C) | |
1 | g.152304547C>T | CA1103406 | FLG | c.10339G>A (p.Gly3447Arg) c.9109-714G>A (n.9109-714G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304548C>A | CA342070809 | FLG | c.10338G>T (p.Gln3446His) c.9109-715G>T (n.9109-715G>T) | |
1 | g.152304548C= | CA2479947503 | FLG | c.10338G= (p.Gln3446=) c.9109-715G= (n.9109-715G=) | |
1 | g.152304548C>G | CA342070824 | FLG | c.10338G>C (p.Gln3446His) c.9109-715G>C (n.9109-715G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304548C>T | CA420926858 | FLG | c.10338G>A (p.Gln3446=) c.9109-715G>A (n.9109-715G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304549T>A | CA342070831 | FLG | c.10337A>T (p.Gln3446Leu) c.9109-716A>T (n.9109-716A>T) | dbSNP |
1 | g.152304549T>C | CA342070838 | FLG | c.10337A>G (p.Gln3446Arg) c.9109-716A>G (n.9109-716A>G) | |
1 | g.152304549T>G | CA342070840 | FLG | c.10337A>C (p.Gln3446Pro) c.9109-716A>C (n.9109-716A>C) | |
1 | g.152304549T= | CA2479947504 | FLG | c.10337A= (p.Gln3446=) c.9109-716A= (n.9109-716A=) | |
1 | g.152304550G>A | CA342070843 | FLG | c.10336C>T (p.Gln3446Ter) c.9109-717C>T (n.9109-717C>T) | |
1 | g.152304550G>C | CA1103407 | FLG | c.10336C>G (p.Gln3446Glu) c.9109-717C>G (n.9109-717C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304550G= | CA1148463048 | FLG | c.10336C= (p.Gln3446=) c.9109-717C= (n.9109-717C=) | |
1 | g.152304550G>T | CA342070844 | FLG | c.10336C>A (p.Gln3446Lys) c.9109-717C>A (n.9109-717C>A) | COSMIC |
1 | g.152304551C>A | CA342070845 | FLG | c.10335G>T (p.Arg3445Ser) c.9109-718G>T (n.9109-718G>T) | |
1 | g.152304551C= | CA1147349798 | FLG | c.10335G= (p.Arg3445=) c.9109-718G= (n.9109-718G=) | |
1 | g.152304551C>G | CA1103408 | FLG | c.10335G>C (p.Arg3445Ser) c.9109-718G>C (n.9109-718G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304551C>T | CA1103409 | FLG | c.10335G>A (p.Arg3445=) c.9109-718G>A (n.9109-718G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304552del | CA2647993506 | FLG | c.10335del (p.Arg3445SerfsTer10) c.9109-718del (n.9109-718del) | gnomAD v4 |
1 | g.152304552C>A | CA342070864 | FLG | c.10334G>T (p.Arg3445Met) c.9109-719G>T (n.9109-719G>T) | |
1 | g.152304552C= | CA2479947505 | FLG | c.10334G= (p.Arg3445=) c.9109-719G= (n.9109-719G=) | |
1 | g.152304552C>G | CA342070867 | FLG | c.10334G>C (p.Arg3445Thr) c.9109-719G>C (n.9109-719G>C) | |
1 | g.152304552C>T | CA342070869 | FLG | c.10334G>A (p.Arg3445Lys) c.9109-719G>A (n.9109-719G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304553T>A | CA342070879 | FLG | c.10333A>T (p.Arg3445Trp) c.9109-720A>T (n.9109-720A>T) | gnomAD v4 |
1 | g.152304553T>C | CA342070873 | FLG | c.10333A>G (p.Arg3445Gly) c.9109-720A>G (n.9109-720A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304553T>G | CA420926875 | FLG | c.10333A>C (p.Arg3445=) c.9109-720A>C (n.9109-720A>C) | |
1 | g.152304553T= | CA2479947506 | FLG | c.10333A= (p.Arg3445=) c.9109-720A= (n.9109-720A=) | |
1 | g.152304554T>A | CA420926877 | FLG | c.10332A>T (p.Gly3444=) c.9109-721A>T (n.9109-721A>T) | |
1 | g.152304554T>C | CA420926878 | FLG | c.10332A>G (p.Gly3444=) c.9109-721A>G (n.9109-721A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304554T>G | CA420926879 | FLG | c.10332A>C (p.Gly3444=) c.9109-721A>C (n.9109-721A>C) | |
1 | g.152304554T= | CA2479947507 | FLG | c.10332A= (p.Gly3444=) c.9109-721A= (n.9109-721A=) | |
1 | g.152304554_152304555delinsAT | CA645537913 | FLG | c.10331_10332delinsAT (p.Gly3444Asp) c.9109-722_9109-721delinsAT (n.9109-722_9109-721delinsAT) | COSMIC |
1 | g.152304555C>A | CA1103410 | FLG | c.10331G>T (p.Gly3444Val) c.9109-722G>T (n.9109-722G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304555C= | CA2479947508 | FLG | c.10331G= (p.Gly3444=) c.9109-722G= (n.9109-722G=) | |
1 | g.152304555C>G | CA1103411 | FLG | c.10331G>C (p.Gly3444Ala) c.9109-722G>C (n.9109-722G>C) | dbSNP ExAC gnomAD v4 |
1 | g.152304555C>T | CA342070890 | FLG | c.10331G>A (p.Gly3444Glu) c.9109-722G>A (n.9109-722G>A) | gnomAD v4 COSMIC |
1 | g.152304556C>A | CA342070893 | FLG | c.10330G>T (p.Gly3444Ter) c.9109-723G>T (n.9109-723G>T) | gnomAD v4 |
1 | g.152304556C= | CA2479947509 | FLG | c.10330G= (p.Gly3444=) c.9109-723G= (n.9109-723G=) | |
1 | g.152304556C>G | CA342070897 | FLG | c.10330G>C (p.Gly3444Arg) c.9109-723G>C (n.9109-723G>C) | |
1 | g.152304556C>T | CA342070903 | FLG | c.10330G>A (p.Gly3444Arg) c.9109-723G>A (n.9109-723G>A) | dbSNP gnomAD v4 |
1 | g.152304557T>A | CA1103412 | FLG | c.10329A>T (p.Arg3443Ser) c.9109-724A>T (n.9109-724A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304557T>C | CA30601079 | FLG | c.10329A>G (p.Arg3443=) c.9109-724A>G (n.9109-724A>G) | dbSNP gnomAD v2 |
1 | g.152304557T>G | CA342070920 | FLG | c.10329A>C (p.Arg3443Ser) c.9109-724A>C (n.9109-724A>C) | |
1 | g.152304557T= | CA2479947510 | FLG | c.10329A= (p.Arg3443=) c.9109-724A= (n.9109-724A=) | |
1 | g.152304558del | CA2647993507 | FLG | c.10328del (p.Arg3443LysfsTer12) c.9109-725del (n.9109-725del) | gnomAD v4 |
1 | g.152304558C>A | CA1103413 | FLG | c.10328G>T (p.Arg3443Ile) c.9109-725G>T (n.9109-725G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304558C= | CA2479947511 | FLG | c.10328G= (p.Arg3443=) c.9109-725G= (n.9109-725G=) | |
1 | g.152304558C>G | CA342070925 | FLG | c.10328G>C (p.Arg3443Thr) c.9109-725G>C (n.9109-725G>C) | |
1 | g.152304558C>T | CA1103414 | FLG | c.10328G>A (p.Arg3443Lys) c.9109-725G>A (n.9109-725G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304559T>A | CA342070933 | FLG | c.10327A>T (p.Arg3443Ter) c.9109-726A>T (n.9109-726A>T) | |
1 | g.152304559T>C | CA1103415 | FLG | c.10327A>G (p.Arg3443Gly) c.9109-726A>G (n.9109-726A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304559T>G | CA420926882 | FLG | c.10327A>C (p.Arg3443=) c.9109-726A>C (n.9109-726A>C) | gnomAD v4 |
1 | g.152304559T= | CA1146292040 | FLG | c.10327A= (p.Arg3443=) c.9109-726A= (n.9109-726A=) | |
1 | g.152304560T>A | CA1103416 | FLG | c.10326A>T (p.Arg3442Ser) c.9109-727A>T (n.9109-727A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304560T>C | CA420926883 | FLG | c.10326A>G (p.Arg3442=) c.9109-727A>G (n.9109-727A>G) | |
1 | g.152304560T>G | CA342070938 | FLG | c.10326A>C (p.Arg3442Ser) c.9109-727A>C (n.9109-727A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304560T= | CA1147834764 | FLG | c.10326A= (p.Arg3442=) c.9109-727A= (n.9109-727A=) | |
1 | g.152304561C>A | CA342070940 | FLG | c.10325G>T (p.Arg3442Ile) c.9109-728G>T (n.9109-728G>T) | |
1 | g.152304561C>G | CA342070944 | FLG | c.10325G>C (p.Arg3442Thr) c.9109-728G>C (n.9109-728G>C) | |
1 | g.152304561C>T | CA342070941 | FLG | c.10325G>A (p.Arg3442Lys) c.9109-728G>A (n.9109-728G>A) | gnomAD v4 COSMIC |
1 | g.152304562T>A | CA1103417 | FLG | c.10324A>T (p.Arg3442Ter) c.9109-729A>T (n.9109-729A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304562T>C | CA342070947 | FLG | c.10324A>G (p.Arg3442Gly) c.9109-729A>G (n.9109-729A>G) | |
1 | g.152304562T>G | CA420926884 | FLG | c.10324A>C (p.Arg3442=) c.9109-729A>C (n.9109-729A>C) | COSMIC |
1 | g.152304562T= | CA2479947512 | FLG | c.10324A= (p.Arg3442=) c.9109-729A= (n.9109-729A=) | |
1 | g.152304563G>A | CA420926885 | FLG | c.10323C>T (p.Ser3441=) c.9109-730C>T (n.9109-730C>T) | gnomAD v4 |
1 | g.152304563G>C | CA342070949 | FLG | c.10323C>G (p.Ser3441Arg) c.9109-730C>G (n.9109-730C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304563G= | CA2479947513 | FLG | c.10323C= (p.Ser3441=) c.9109-730C= (n.9109-730C=) | |
1 | g.152304563G>T | CA30601099 | FLG | c.10323C>A (p.Ser3441Arg) c.9109-730C>A (n.9109-730C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304564C>A | CA342070953 | FLG | c.10322G>T (p.Ser3441Ile) c.9109-731G>T (n.9109-731G>T) | |
1 | g.152304564C>G | CA342070956 | FLG | c.10322G>C (p.Ser3441Thr) c.9109-731G>C (n.9109-731G>C) | |
1 | g.152304564C>T | CA342070960 | FLG | c.10322G>A (p.Ser3441Asn) c.9109-731G>A (n.9109-731G>A) | |
1 | g.152304565T>A | CA342070964 | FLG | c.10321A>T (p.Ser3441Cys) c.9109-732A>T (n.9109-732A>T) | |
1 | g.152304565T>C | CA342070966 | FLG | c.10321A>G (p.Ser3441Gly) c.9109-732A>G (n.9109-732A>G) | |
1 | g.152304565T>G | CA342070968 | FLG | c.10321A>C (p.Ser3441Arg) c.9109-732A>C (n.9109-732A>C) | |
1 | g.152304566T>A | CA420926886 | FLG | c.10320A>T (p.Ser3440=) c.9109-733A>T (n.9109-733A>T) | |
1 | g.152304566T>C | CA420926888 | FLG | c.10320A>G (p.Ser3440=) c.9109-733A>G (n.9109-733A>G) | |
1 | g.152304566T>G | CA420926887 | FLG | c.10320A>C (p.Ser3440=) c.9109-733A>C (n.9109-733A>C) | |
1 | g.152304567G>A | CA342070971 | FLG | c.10319C>T (p.Ser3440Leu) c.9109-734C>T (n.9109-734C>T) | |
1 | g.152304567G>C | CA1103418 | FLG | c.10319C>G (p.Ser3440Ter) c.9109-734C>G (n.9109-734C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304567G= | CA2479947514 | FLG | c.10319C= (p.Ser3440=) c.9109-734C= (n.9109-734C=) | |
1 | g.152304567G>T | CA342070977 | FLG | c.10319C>A (p.Ser3440Ter) c.9109-734C>A (n.9109-734C>A) | gnomAD v4 |
1 | g.152304568A= | CA1143428424 | FLG | c.10318T= (p.Ser3440=) c.9109-735T= (n.9109-735T=) | |
1 | g.152304568A>C | CA342070984 | FLG | c.10318T>G (p.Ser3440Ala) c.9109-735T>G (n.9109-735T>G) | gnomAD v3 gnomAD v4 |
1 | g.152304568A>G | CA1103419 | FLG | c.10318T>C (p.Ser3440Pro) c.9109-735T>C (n.9109-735T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304568A>T | CA1103420 | FLG | c.10318T>A (p.Ser3440Thr) c.9109-735T>A (n.9109-735T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304569C>A | CA420926889 | FLG | c.10317G>T (p.Gly3439=) c.9109-736G>T (n.9109-736G>T) | gnomAD v4 |
1 | g.152304569C= | CA2479947515 | FLG | c.10317G= (p.Gly3439=) c.9109-736G= (n.9109-736G=) | |
1 | g.152304569C>G | CA420926890 | FLG | c.10317G>C (p.Gly3439=) c.9109-736G>C (n.9109-736G>C) | |
1 | g.152304569C>T | CA420926891 | FLG | c.10317G>A (p.Gly3439=) c.9109-736G>A (n.9109-736G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304570C>A | CA342070988 | FLG | c.10316G>T (p.Gly3439Val) c.9109-737G>T (n.9109-737G>T) | gnomAD v4 COSMIC |
1 | g.152304570C>G | CA342070989 | FLG | c.10316G>C (p.Gly3439Ala) c.9109-737G>C (n.9109-737G>C) | |
1 | g.152304570C>T | CA342070990 | FLG | c.10316G>A (p.Gly3439Glu) c.9109-737G>A (n.9109-737G>A) | gnomAD v4 COSMIC |
1 | g.152304571C>A | CA342070993 | FLG | c.10315G>T (p.Gly3439Trp) c.9109-738G>T (n.9109-738G>T) | |
1 | g.152304571C>G | CA342070997 | FLG | c.10315G>C (p.Gly3439Arg) c.9109-738G>C (n.9109-738G>C) | gnomAD v4 |
1 | g.152304571C>T | CA342071002 | FLG | c.10315G>A (p.Gly3439Arg) c.9109-738G>A (n.9109-738G>A) | COSMIC |
1 | g.152304572C>A | CA420926892 | FLG | c.10314G>T (p.Pro3438=) c.9109-739G>T (n.9109-739G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304572C= | CA1139986941 | FLG | c.10314G= (p.Pro3438=) c.9109-739G= (n.9109-739G=) | |
1 | g.152304572C>G | CA1103421 | FLG | c.10314G>C (p.Pro3438=) c.9109-739G>C (n.9109-739G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304572C>T | CA1103422 | FLG | c.10314G>A (p.Pro3438=) c.9109-739G>A (n.9109-739G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304573G>A | CA1103423 | FLG | c.10313C>T (p.Pro3438Leu) c.9109-740C>T (n.9109-740C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304573G>C | CA342071009 | FLG | c.10313C>G (p.Pro3438Arg) c.9109-740C>G (n.9109-740C>G) | gnomAD v4 |
1 | g.152304573G= | CA1143827677 | FLG | c.10313C= (p.Pro3438=) c.9109-740C= (n.9109-740C=) | |
1 | g.152304573G>T | CA342071010 | FLG | c.10313C>A (p.Pro3438Gln) c.9109-740C>A (n.9109-740C>A) | |
1 | g.152304573_152304653del | CA2604727345 | FLG | c.10233_10313del (p.Gly3412_Pro3438del) c.9109-820_9109-740del (n.9109-820_9109-740del) | gnomAD v3 gnomAD v4 |
1 | g.152304574G>A | CA1103425 | FLG | c.10312C>T (p.Pro3438Ser) c.9109-741C>T (n.9109-741C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304574G>C | CA342071014 | FLG | c.10312C>G (p.Pro3438Ala) c.9109-741C>G (n.9109-741C>G) | gnomAD v4 |
1 | g.152304574G= | CA1143592622 | FLG | c.10312C= (p.Pro3438=) c.9109-741C= (n.9109-741C=) | |
1 | g.152304574G>T | CA1103424 | FLG | c.10312C>A (p.Pro3438Thr) c.9109-741C>A (n.9109-741C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304575G>A | CA420926893 | FLG | c.10311C>T (p.His3437=) c.9109-742C>T (n.9109-742C>T) | |
1 | g.152304575G>C | CA342071015 | FLG | c.10311C>G (p.His3437Gln) c.9109-742C>G (n.9109-742C>G) | |
1 | g.152304575G>T | CA342071017 | FLG | c.10311C>A (p.His3437Gln) c.9109-742C>A (n.9109-742C>A) | |
1 | g.152304576T>A | CA342071022 | FLG | c.10310A>T (p.His3437Leu) c.9109-743A>T (n.9109-743A>T) | |
1 | g.152304576T>C | CA342071024 | FLG | c.10310A>G (p.His3437Arg) c.9109-743A>G (n.9109-743A>G) | |
1 | g.152304576T>G | CA342071026 | FLG | c.10310A>C (p.His3437Pro) c.9109-743A>C (n.9109-743A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304577G>A | CA342071041 | FLG | c.10309C>T (p.His3437Tyr) c.9109-744C>T (n.9109-744C>T) | |
1 | g.152304577G>C | CA342071043 | FLG | c.10309C>G (p.His3437Asp) c.9109-744C>G (n.9109-744C>G) | |
1 | g.152304577G>T | CA342071045 | FLG | c.10309C>A (p.His3437Asn) c.9109-744C>A (n.9109-744C>A) | |
1 | g.152304578T>A | CA420926894 | FLG | c.10308A>T (p.Gly3436=) c.9109-745A>T (n.9109-745A>T) | |
1 | g.152304578T>C | CA420926895 | FLG | c.10308A>G (p.Gly3436=) c.9109-745A>G (n.9109-745A>G) | |
1 | g.152304578T>G | CA420926896 | FLG | c.10308A>C (p.Gly3436=) c.9109-745A>C (n.9109-745A>C) | |
1 | g.152304579C>A | CA342071049 | FLG | c.10307G>T (p.Gly3436Val) c.9109-746G>T (n.9109-746G>T) | |
1 | g.152304579C= | CA1139911795 | FLG | c.10307G= (p.Gly3436=) c.9109-746G= (n.9109-746G=) | |
1 | g.152304579C>G | CA1103426 | FLG | c.10307G>C (p.Gly3436Ala) c.9109-746G>C (n.9109-746G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304579C>T | CA342071055 | FLG | c.10307G>A (p.Gly3436Glu) c.9109-746G>A (n.9109-746G>A) | dbSNP |
1 | g.152304580C>A | CA342071060 | FLG | c.10306G>T (p.Gly3436Ter) c.9109-747G>T (n.9109-747G>T) | |
1 | g.152304580C= | CA2479947516 | FLG | c.10306G= (p.Gly3436=) c.9109-747G= (n.9109-747G=) | |
1 | g.152304580C>G | CA342071063 | FLG | c.10306G>C (p.Gly3436Arg) c.9109-747G>C (n.9109-747G>C) | |
1 | g.152304580C>T | CA342071058 | FLG | c.10306G>A (p.Gly3436Arg) c.9109-747G>A (n.9109-747G>A) | dbSNP |
1 | g.152304581A>C | CA420926898 | FLG | c.10305T>G (p.Arg3435=) c.9109-748T>G (n.9109-748T>G) | |
1 | g.152304581A>G | CA420926897 | FLG | c.10305T>C (p.Arg3435=) c.9109-748T>C (n.9109-748T>C) | |
1 | g.152304581A>T | CA420926899 | FLG | c.10305T>A (p.Arg3435=) c.9109-748T>A (n.9109-748T>A) | |
1 | g.152304582C>A | CA342071068 | FLG | c.10304G>T (p.Arg3435Leu) c.9109-749G>T (n.9109-749G>T) | gnomAD v4 |
1 | g.152304582C= | CA1147970673 | FLG | c.10304G= (p.Arg3435=) c.9109-749G= (n.9109-749G=) | |
1 | g.152304582C>G | CA342071070 | FLG | c.10304G>C (p.Arg3435Pro) c.9109-749G>C (n.9109-749G>C) | |
1 | g.152304582C>T | CA1103427 | FLG | c.10304G>A (p.Arg3435His) c.9109-749G>A (n.9109-749G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304583G>A | CA1103428 | FLG | c.10303C>T (p.Arg3435Cys) c.9109-750C>T (n.9109-750C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304583G>C | CA342071074 | FLG | c.10303C>G (p.Arg3435Gly) c.9109-750C>G (n.9109-750C>G) | gnomAD v4 |
1 | g.152304583G= | CA2479947517 | FLG | c.10303C= (p.Arg3435=) c.9109-750C= (n.9109-750C=) | |
1 | g.152304583G>T | CA342071075 | FLG | c.10303C>A (p.Arg3435Ser) c.9109-750C>A (n.9109-750C>A) | |
1 | g.152304584A= | CA2479947518 | FLG | c.10302T= (p.Ile3434=) c.9109-751T= (n.9109-751T=) | |
1 | g.152304584A>C | CA342071076 | FLG | c.10302T>G (p.Ile3434Met) c.9109-751T>G (n.9109-751T>G) | |
1 | g.152304584A>G | CA420926900 | FLG | c.10302T>C (p.Ile3434=) c.9109-751T>C (n.9109-751T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304584A>T | CA420926901 | FLG | c.10302T>A (p.Ile3434=) c.9109-751T>A (n.9109-751T>A) | |
1 | g.152304585A= | CA2479947519 | FLG | c.10301T= (p.Ile3434=) c.9109-752T= (n.9109-752T=) | |
1 | g.152304585A>C | CA342071078 | FLG | c.10301T>G (p.Ile3434Ser) c.9109-752T>G (n.9109-752T>G) | |
1 | g.152304585A>G | CA342071080 | FLG | c.10301T>C (p.Ile3434Thr) c.9109-752T>C (n.9109-752T>C) | gnomAD v3 gnomAD v4 |
1 | g.152304585A>T | CA1103429 | FLG | c.10301T>A (p.Ile3434Asn) c.9109-752T>A (n.9109-752T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304586T>A | CA342071085 | FLG | c.10300A>T (p.Ile3434Phe) c.9109-753A>T (n.9109-753A>T) | |
1 | g.152304586T>C | CA342071087 | FLG | c.10300A>G (p.Ile3434Val) c.9109-753A>G (n.9109-753A>G) | |
1 | g.152304586T>G | CA342071089 | FLG | c.10300A>C (p.Ile3434Leu) c.9109-753A>C (n.9109-753A>C) | |
1 | g.152304587G>A | CA420926902 | FLG | c.10299C>T (p.Thr3433=) c.9109-754C>T (n.9109-754C>T) | gnomAD v4 |
1 | g.152304587G>C | CA420926903 | FLG | c.10299C>G (p.Thr3433=) c.9109-754C>G (n.9109-754C>G) | |
1 | g.152304587G>T | CA420926904 | FLG | c.10299C>A (p.Thr3433=) c.9109-754C>A (n.9109-754C>A) | |
1 | g.152304588G>A | CA342071101 | FLG | c.10298C>T (p.Thr3433Ile) c.9109-755C>T (n.9109-755C>T) | gnomAD v4 |
1 | g.152304588G>C | CA342071099 | FLG | c.10298C>G (p.Thr3433Ser) c.9109-755C>G (n.9109-755C>G) | |
1 | g.152304588G>T | CA342071096 | FLG | c.10298C>A (p.Thr3433Asn) c.9109-755C>A (n.9109-755C>A) |